Review
The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review
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* Corresponding author: Rohan Ameratunga immunology@xtra.co.nz
1 Department of Clinical Immunology Auckland City Hospital, Park Rd, Grafton, Auckland New Zealand
2 LabPlus, Auckland City Hospital, Park Rd, Grafton, Auckland New Zealand
3 Central and Southern Regional Genetic Services, Wellington Hospital, Private Bag 7902, Wellington, New Zealand
Allergy, Asthma & Clinical Immunology 2010, 6:12 doi:10.1186/1710-1492-6-12
Published: 8 June 2010Abstract
Primary immune deficiency disorders (PIDs) are a group of diseases associated with a genetic predisposition to recurrent infections, malignancy, autoimmunity and allergy. The molecular basis of many of these disorders has been identified in the last two decades. Most are inherited as single gene defects. Identifying the underlying genetic defect plays a critical role in patient management including diagnosis, family studies, prognostic information, prenatal diagnosis and is useful in defining new diseases. In this review we outline the clinical utility of molecular testing for these disorders using clinical cases referred to Auckland Hospital. It is written from the perspective of a laboratory offering a wide range of tests for a small developed country.